Canonical Allele Identifier: CA388785274
Community Standard Title: NM_019616.4(F7):c.656C>A (p.Thr219Asn)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113117513C>A , CM000675.2:g.113117513C>A GRCh38
NC_000013.10:g.113771827C>A , CM000675.1:g.113771827C>A GRCh37
NC_000013.9:g.112819828C>A NCBI36
NG_009262.1:g.16723C>A , LRG_554:g.16723C>A

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.656C>A MANE Select NP_062562.1:p.Thr219Asn
ENST00000346342.8:c.656C>A MANE Select ENSP00000329546.4:p.Thr219Asn
NM_000131.4:c.722C>A , LRG_554t1:c.722C>A NP_000122.1:p.Thr241Asn
NM_001267554.1:c.470C>A NP_001254483.1:p.Thr157Asn
NM_001267554.2:c.470C>A NP_001254483.1:p.Thr157Asn
NM_019616.3:c.656C>A , LRG_554t2:c.656C>A NP_062562.1:p.Thr219Asn
NR_051961.1:n.743C>A
NR_051961.2:n.740C>A
ENST00000346342.7:c.656C>A ENSP00000329546.3:p.Thr219Asn
ENST00000375581.3:c.722C>A ENSP00000364731.3:p.Thr241Asn
ENST00000541084.5:c.470C>A ENSP00000442051.2:p.Thr157Asn
XM_006719963.2:c.515C>A XP_006720026.1:p.Thr172Asn
XM_006719963.3:c.560C>A XP_006720026.2:p.Thr187Asn
XM_011537474.1:c.764C>A XP_011535776.1:p.Thr255Asn
XM_011537474.2:c.809C>A XP_011535776.2:p.Thr270Asn
XM_011537475.1:c.578C>A XP_011535777.1:p.Thr193Asn
XM_011537475.2:c.623C>A XP_011535777.2:p.Thr208Asn
XM_011537476.1:c.416C>A XP_011535778.1:p.Thr139Asn
XM_011537476.2:c.416C>A XP_011535778.1:p.Thr139Asn
XM_011537477.1:c.725C>A XP_011535779.1:p.Thr242Asn